307127004: Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect\Mitochondrial trifunctional protein deficiency\Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
450307015	Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
450308013	LCHAD - Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
703610018	Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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